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Myotonia fluctuans
1 OMIM reference -
1 associated gene
19 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 14
Myotonia permanens
1 OMIM reference -
1 associated gene
26 signs/symptoms
Myotonia fluctuans
Myotonia permanens

SCN4A
(UniProt - OMIM)
 SCN4A
(UniProt - OMIM)

COMMON
GENES 		SCN4A


Citations in the biomedical literature:


Myotonia fluctuans
SCN4A
Myotonia permanens



Myotonia fluctuans
Myotonia permanens

Synonym(s):
- Exercise-induced delayed-onset myotonia
- Fluctuating myotonia
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Abnormal EMG / electromyogram / electropmyography
- Abnormal gait
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Autosomal dominant inheritance
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hypertonia / spasticity / rigidity / stiffness
- Muscle hypertrophy
- Muscle weakness / flaccidity
- Myalgia / muscular pain
- Myotonia
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Thoracic / chest pain

Myotonia fluctuans
Myotonia permanens

Occasional
- Dystonia / torticollis / writer's cramp / blepharospasms
- Hyperkalemia
- Muscular edema
- Myopathy
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness


Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Anomalies of nose and olfaction
- Asthma / bronchospasm
- Epicanthic folds
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long philtrum
- Lordosis
- Micrognathia / retrognathia / micrognathism / retrognathism
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Restricted joint mobility / joint stiffness / ankylosis
- Short neck
- Short stature / dwarfism / nanism